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Hereditary Neuropathies.
Eggermann K, Gess B, Häusler M, Weis J, Hahn A, Kurth I. Eggermann K, et al. Among authors: gess b. Dtsch Arztebl Int. 2018 Feb 9;115(6):91-97. doi: 10.3238/arztebl.2018.0091. Dtsch Arztebl Int. 2018. PMID: 29478438 Free PMC article. Review.
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Dohrn MF, Glöckle N, Mulahasanovic L, Heller C, Mohr J, Bauer C, Riesch E, Becker A, Battke F, Hörtnagel K, Hornemann T, Suriyanarayanan S, Blankenburg M, Schulz JB, Claeys KG, Gess B, Katona I, Ferbert A, Vittore D, Grimm A, Wolking S, Schöls L, Lerche H, Korenke GC, Fischer D, Schrank B, Kotzaeridou U, Kurlemann G, Dräger B, Schirmacher A, Young P, Schlotter-Weigel B, Biskup S. Dohrn MF, et al. Among authors: gess b. J Neurochem. 2017 Dec;143(5):507-522. doi: 10.1111/jnc.14217. Epub 2017 Nov 7. J Neurochem. 2017. PMID: 28902413 Free article.
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Götzl R, Luna EJ, Lochmüller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C. Hedberg-Oldfors C, et al. Among authors: gess b. Brain. 2020 Aug 1;143(8):2406-2420. doi: 10.1093/brain/awaa206. Brain. 2020. PMID: 32779703 Free PMC article.
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Dohrn MF, Heller C, Zengeler D, Obermaier CD, Biskup S, Weis J, Nikolin S, Claeys KG, Schöne U, Beijer D, Winter N, Achenbach P, Gess B, Schulz JB, Mulahasanovic L. Dohrn MF, et al. Among authors: gess b. Neurol Res Pract. 2022 Feb 1;4(1):5. doi: 10.1186/s42466-022-00169-w. Neurol Res Pract. 2022. PMID: 35101151 Free PMC article.
Ascorbic acid for the treatment of Charcot-Marie-Tooth disease.
Gess B, Baets J, De Jonghe P, Reilly MM, Pareyson D, Young P. Gess B, et al. Cochrane Database Syst Rev. 2015 Dec 11;2015(12):CD011952. doi: 10.1002/14651858.CD011952. Cochrane Database Syst Rev. 2015. PMID: 26662471 Free PMC article. Review.
74 results